Skip to main content

Table 1 Number and specificity of the DP shared by pairs of HPO-annotated D

From: The similarity of inherited diseases (I): clinical similarity within the phenotypic series

Condition

DiDj pairs

DP(i,j) count per DiDj pair

IC per DiDj pair

Mean (SD)

Median (range)

Mean (SD)

Median (range)

PSi = PSj

15,372

4.8 (4.1)

4 (1–65)

0.38 (0.12)

0.37 (0.08–1)

PSi ≠ PSj

609,238

2.5 (2.3)

2 (1–45)

0.28 (0.11)

0.26 (0.07–1)

All

624,610

2.6 (2.4)

2 (1–65)

0.28 (0.11)

0.26 (0.07–1)

  1. The table reports the count and the IC of the DP (as HPO terms), which are shared among the D pairs that are used to assemble the DDSN-C, in the indicated conditions, i.e., when Di and Dj are in the same PS (PSi = PSj), in different PS (PSi ≠ PSj) or both (All)